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Learn About DK Phocomelia Syndrome

What is the definition of DK Phocomelia Syndrome?
DK phocomelia syndrome is a very rare disorder characterized by shortened or absent arms (phocomelia), sac-like protrusions of the brain and the membranes that cover it through openings in the skull (encephalocele), variable brain abnormalities, urogenital abnormalities, and abnormally low platelets (thrombocytopenia). Intellectual development is usually normal. As of May 2010, less than 15 cases have been reported. The exact cause of this condition is unknown; but autosomal recessive inheritance has been suggested.
What are the alternative names for DK Phocomelia Syndrome?
  • DK phocomelia syndrome
  • Phocomelia thrombocytopenia encephalocele and urogenital malformations
  • Von Voss Cherstvoy syndrome
Who are the top DK Phocomelia Syndrome Local Doctors?
Advanced in DK Phocomelia Syndrome
Hematology Oncology | Hematology | Oncology
Advanced in DK Phocomelia Syndrome
Hematology Oncology | Hematology | Oncology

Wk Hematology Oncology Associates

2600 Kings Hwy, Suite 340, 
Shreveport, LA 
Languages Spoken:
English
Accepting New Patients

Joyce Feagin is a Hematologist Oncology specialist and a Hematologist in Shreveport, Louisiana. Dr. Feagin is rated as an Advanced provider by MediFind in the treatment of DK Phocomelia Syndrome. Her top areas of expertise are Inflammatory Breast Cancer, Colorectal Cancer, Familial Colorectal Cancer, and Paget Disease of the Breast. Dr. Feagin is currently accepting new patients.

Cheng Her
Experienced in DK Phocomelia Syndrome
Family Medicine
Experienced in DK Phocomelia Syndrome
Family Medicine

Viaro Professional Arts Ltd Health Care

230 Pine St, 
La Crosse, WI 
Languages Spoken:
English

Cheng Her is a primary care provider, practicing in Family Medicine in La Crosse, Wisconsin. Dr. Her is rated as an Experienced provider by MediFind in the treatment of DK Phocomelia Syndrome. His top areas of expertise are Cerebral Palsy, Char Syndrome, Vici Syndrome, and Cohen Syndrome.

 
 
 
 
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Philip L. Goolsby
Experienced in DK Phocomelia Syndrome
Family Medicine
Experienced in DK Phocomelia Syndrome
Family Medicine

Aurora Family Medicine

1565 Allouez Ave, 
Green Bay, WI 
Languages Spoken:
English

Philip Goolsby is a primary care provider, practicing in Family Medicine in Green Bay, Wisconsin. Dr. Goolsby is rated as an Experienced provider by MediFind in the treatment of DK Phocomelia Syndrome. His top areas of expertise are Monoclonal Gammopathy of Undetermined Significance (MGUS), Schnitzler Syndrome, Movement Disorders, and Parkinson's Disease.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center